What is the normal function of the AMPD1 gene?

The AMPD1 gene provides instructions for producing an enzyme called adenosine monophosphate deaminase. This enzyme is found in the muscles used for movement (skeletal muscles), where it plays a role in the production of energy. Specifically, this enzyme converts a molecule called adenosine monophosphate (AMP) to a molecule called inosine monophosphate (IMP) as part of a process that produces energy within muscle cells. Muscle cells need energy to function and move the body.

How are changes in the AMPD1 gene related to health conditions?

At least eight mutations in the AMPD1 gene have been found to cause AMP deaminase deficiency. Most cases are caused by a mutation that results in a premature stop signal in the instructions for making AMP deaminase (written as Gly12Ter or Q12X). The resulting enzyme is abnormally short and cannot fulfill its role in the process of energy production in skeletal muscle cells. A lack of functional enzyme can cause muscles to tire easily during physical activity, leading to muscle weakness or pain in some people with AMP deaminase deficiency. Other people with mutations in this gene never experience any signs and symptoms associated with AMP deaminase deficiency.

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